Global Variome shared LOVD

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Phenotype #0000321864 Individual ID 00431264 Associated disease NPHS Phenotype details 1m-proteinuria; 2m-end stage renal disease; 5m-died; biopsy foot process effacement irregular glomerular basement membrane; primary microcephaly, poor development, hypotonia, poor sucking power, abnormal eeg; MRI cranial abnormal gyration, cortical dysplasia, periventricular white mater changes, hypomyelination, enlarged subdural spaces and ventricles, mild cerebellar atrophy; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1760 g at 37w ga); congenital nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 5m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-06 20:38:44 +01:00 (CET) Date last edited N/A

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